Literature DB >> 34183250

Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Darius Ebrahimi-Fakhari1, Afshin Saffari2, Phillip L Pearl3.   

Abstract

Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic counseling, anticipatory guidance, and improve outcomes, particularly where specific treatments exist. The diagnosis relies on clinical pattern recognition, biochemical testing, neuroimaging, and increasingly next-generation sequencing-based molecular testing. In this short review, we summarize the clinical and molecular understanding of: 1) childhood-onset and complex forms of hereditary spastic paraplegia (SPG5, SPG7, SPG11, SPG15, SPG35, SPG47, SPG48, SPG50, SPG51, SPG52) and, 2) the most common inborn errors of metabolism that present with phenotypes that resemble hereditary spastic paraplegia.
Copyright © 2021 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Biotinidase deficiency; Cerebrotendinous xanthomatosis; Hereditary spastic paraplegia; Inborn error of metabolism; Spasticity; Urea cycle disorders

Year:  2021        PMID: 34183250      PMCID: PMC8843241          DOI: 10.1016/j.ymgme.2021.06.006

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  95 in total

1.  Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.

Authors:  Jaerak Chang; Seongju Lee; Craig Blackstone
Journal:  J Clin Invest       Date:  2014-11-03       Impact factor: 14.808

Review 2.  Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.

Authors:  Barry Wolf
Journal:  Mol Genet Metab       Date:  2015-09-03       Impact factor: 4.797

3.  Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Authors:  Amir Boukhris; Rebecca Schule; José L Loureiro; Charles Marques Lourenço; Emeline Mundwiller; Michael A Gonzalez; Perrine Charles; Julie Gauthier; Imen Rekik; Rafael F Acosta Lebrigio; Marion Gaussen; Fiorella Speziani; Andreas Ferbert; Imed Feki; Andrés Caballero-Oteyza; Alexandre Dionne-Laporte; Mohamed Amri; Anne Noreau; Sylvie Forlani; Vitor T Cruz; Fanny Mochel; Paula Coutinho; Patrick Dion; Chokri Mhiri; Ludger Schols; Jean Pouget; Frédéric Darios; Guy A Rouleau; Wilson Marques; Alexis Brice; Alexandra Durr; Stephan Zuchner; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2013-06-06       Impact factor: 11.025

4.  Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Authors:  Stephan Klebe; Christel Depienne; Sylvie Gerber; Georges Challe; Mathieu Anheim; Perrine Charles; Estelle Fedirko; Elodie Lejeune; Julien Cottineau; Alfredo Brusco; Hélène Dollfus; Patrick F Chinnery; Cecilia Mancini; Xavier Ferrer; Guilhem Sole; Alain Destée; Jean-Michel Mayer; Bertrand Fontaine; Jérôme de Seze; Michel Clanet; Elisabeth Ollagnon; Philippe Busson; Cécile Cazeneuve; Giovanni Stevanin; Josseline Kaplan; Jean-Michel Rozet; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2012-10       Impact factor: 13.501

5.  "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Authors:  B Pascual; S T de Bot; M R Daniels; M C França; C Toro; M Riverol; P Hedera; M T Bassi; N Bresolin; B P van de Warrenburg; B Kremer; J Nicolai; P Charles; J Xu; S Singh; N J Patronas; S H Fung; M D Gregory; J C Masdeu
Journal:  AJNR Am J Neuroradiol       Date:  2019-01-03       Impact factor: 3.825

Review 6.  Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.

Authors:  Vera Tadic; Meike Kasten; Norbert Brüggemann; Sophie Stiller; Johann Hagenah; Christine Klein
Journal:  Arch Neurol       Date:  2012-12

Review 7.  Hereditary spastic paraplegia.

Authors:  Craig Blackstone
Journal:  Handb Clin Neurol       Date:  2018

8.  Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

Authors:  Robert Behne; Julian Teinert; Miriam Wimmer; Angelica D'Amore; Alexandra K Davies; Joseph M Scarrott; Kathrin Eberhardt; Barbara Brechmann; Ivy Pin-Fang Chen; Elizabeth D Buttermore; Lee Barrett; Sean Dwyer; Teresa Chen; Jennifer Hirst; Antje Wiesener; Devorah Segal; Andrea Martinuzzi; Sofia T Duarte; James T Bennett; Thomas Bourinaris; Henry Houlden; Agathe Roubertie; Filippo M Santorelli; Margaret Robinson; Mimoun Azzouz; Jonathan O Lipton; Georg H H Borner; Mustafa Sahin; Darius Ebrahimi-Fakhari
Journal:  Hum Mol Genet       Date:  2020-01-15       Impact factor: 6.150

9.  AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.

Authors:  Alexandra K Davies; Daniel N Itzhak; James R Edgar; Tara L Archuleta; Jennifer Hirst; Lauren P Jackson; Margaret S Robinson; Georg H H Borner
Journal:  Nat Commun       Date:  2018-09-27       Impact factor: 14.919

Review 10.  An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.

Authors:  Kishore R Kumar; Nicholas F Blair; Carolyn M Sue
Journal:  Mov Disord Clin Pract       Date:  2015-06-02
View more
  1 in total

1.  Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.

Authors:  Darius Ebrahimi-Fakhari; Julian E Alecu; Marvin Ziegler; Gregory Geisel; Catherine Jordan; Angelica D'Amore; Rebecca C Yeh; Shyam K Akula; Afshin Saffari; Sanjay P Prabhu; Mustafa Sahin; Edward Yang
Journal:  Neurology       Date:  2021-09-20       Impact factor: 9.910

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.